{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645459299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 247,
          "referenceAllele": "R",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040050",
      "geneNCBI_id": 345643,
      "geneSymbol": "MCIDAS",
      "hgvs": [
        "NP_001177716.1:p.Arg247Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3266561",
          "hgvs": "NM_001190787.3:c.739C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156680"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239854[alleleid]",
        "alleleId": 239854,
        "preferredName": "NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/238621",
        "RCV": [
          "RCV000231891",
          "RCV000238760"
        ],
        "variationId": 238621
      }
    ]
  },
  "type": "amino-acid"
}